Variant report

Variant	nsv460070
Chromosome Location	chr2:212492764-212541377
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:212503990-212504240	HepG2	liver:	n/a	chr2:212504050-212504061
2	CEBPB	chr2:212513072-212513437	HepG2	liver:	n/a	chr2:212513254-212513265
3	CEBPB	chr2:212529369-212529444	IMR90	lung:	n/a	chr2:212529398-212529409 chr2:212529398-212529407 chr2:212529398-212529407 chr2:212529396-212529409 chr2:212529398-212529407 chr2:212529398-212529407
4	CEBPB	chr2:212535291-212535822	HepG2	liver:	n/a	n/a
5	CEBPB	chr2:212517116-212517411	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr2:212530539-212530781	HepG2	liver:	n/a	chr2:212530643-212530654
7	CEBPB	chr2:212513169-212513391	A549	lung:	n/a	chr2:212513254-212513265
8	CTCF	chr2:212516760-212516910	HVMF	connective:	n/a	n/a
9	E2F4	chr2:212525299-212525499	MCF10A-Er-Src	breast:	n/a	n/a
10	E2F4	chr2:212538454-212538737	MCF10A-Er-Src	breast:	n/a	n/a
11	EP300	chr2:212516991-212517435	T-47D	breast:	n/a	chr2:212517212-212517222 chr2:212517368-212517375
12	ESR1	chr2:212517071-212517471	T-47D	breast:	n/a	n/a
13	ESR1	chr2:212517059-212517409	T-47D	breast:	n/a	n/a
14	ESR1	chr2:212517061-212517437	T-47D	breast:	n/a	n/a
15	FAM48A	chr2:212512441-212512568	GM12878	blood:	n/a	n/a
16	FOXA1	chr2:212517028-212517359	T-47D	breast:	n/a	n/a
17	FOXA1	chr2:212517015-212517355	T-47D	breast:	n/a	n/a
18	GATA2	chr2:212521191-212521591	SH-SY5Y	brain:	n/a	n/a
19	GATA3	chr2:212521233-212521523	SH-SY5Y	brain:	n/a	n/a
20	GATA3	chr2:212529653-212529862	SH-SY5Y	brain:	n/a	n/a
21	GATA3	chr2:212517029-212517403	T-47D	breast:	n/a	n/a
22	GATA3	chr2:212516930-212517504	MCF-7	breast:	n/a	n/a
23	GATA3	chr2:212516825-212517385	MCF-7	breast:	n/a	n/a
24	GATA3	chr2:212516905-212517511	T-47D	breast:	n/a	n/a
25	GATA3	chr2:212521163-212521596	SK-N-SH	brain:	n/a	n/a
26	HDAC2	chr2:212517045-212517406	MCF-7	breast:	n/a	chr2:212517221-212517235
27	JUND	chr2:212516904-212517506	T-47D	breast:	n/a	chr2:212516968-212516980 chr2:212517197-212517206
28	JUND	chr2:212512839-212513113	HepG2	liver:	n/a	n/a
29	KAP1	chr2:212531266-212531475	K562	blood:	n/a	n/a
30	MAFF	chr2:212536745-212537040	K562	blood:	n/a	chr2:212536892-212536910 chr2:212536898-212536912
31	MAFF	chr2:212511242-212511486	HepG2	liver:	n/a	chr2:212511391-212511409 chr2:212511345-212511363
32	MAFF	chr2:212536721-212537082	HepG2	liver:	n/a	chr2:212536892-212536910 chr2:212536898-212536912
33	MAFK	chr2:212536743-212537023	H1-hESC	embryonic stem cell:	n/a	chr2:212536895-212536906 chr2:212536898-212536912 chr2:212536894-212536909 chr2:212536897-212536913 chr2:212536895-212536915
34	MAFK	chr2:212536795-212537011	K562	blood:	n/a	chr2:212536895-212536906 chr2:212536898-212536912 chr2:212536894-212536909 chr2:212536897-212536913 chr2:212536895-212536915
35	MAFK	chr2:212511258-212511484	HepG2	liver:	n/a	chr2:212511396-212511407 chr2:212511396-212511407 chr2:212511392-212511408 chr2:212511395-212511409
36	MAFK	chr2:212536614-212537084	IMR90	lung:	n/a	chr2:212536895-212536906 chr2:212536898-212536912 chr2:212536894-212536909 chr2:212536897-212536913 chr2:212536895-212536915
37	MAFK	chr2:212536725-212537042	HepG2	liver:	n/a	chr2:212536895-212536906 chr2:212536898-212536912 chr2:212536894-212536909 chr2:212536897-212536913 chr2:212536895-212536915
38	MAFK	chr2:212511242-212511519	HepG2	liver:	n/a	chr2:212511396-212511407 chr2:212511396-212511407 chr2:212511392-212511408 chr2:212511395-212511409
39	MAFK	chr2:212536822-212537072	Hela-S3	cervix:	n/a	chr2:212536895-212536906 chr2:212536898-212536912 chr2:212536894-212536909 chr2:212536897-212536913 chr2:212536895-212536915
40	MAFK	chr2:212536719-212537087	HepG2	liver:	n/a	chr2:212536895-212536906 chr2:212536898-212536912 chr2:212536894-212536909 chr2:212536897-212536913 chr2:212536895-212536915
41	MAX	chr2:212521261-212521343	NB4	blood:	n/a	n/a
42	MYC	chr2:212522673-212522712	NB4	blood:	n/a	n/a
43	MYC	chr2:212522607-212522617	MCF-7	breast:	n/a	n/a
44	MYC	chr2:212522556-212522559	MCF-7	breast:	n/a	n/a
45	NR2F2	chr2:212516907-212517534	MCF-7	breast:	n/a	n/a
46	NR2F2	chr2:212516996-212517502	MCF-7	breast:	n/a	n/a
47	NRF1	chr2:212521346-212521359	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr2:212495294-212495387	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr2:212540164-212540249	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr2:212511475-212511658	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ERBB4	TF binding region

Extended variants
information (count: 1856 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1856 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7601664	chr2:212492764-212492765	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530405677	chr2:212492852-212492853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75685909	chr2:212492890-212492891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76375869	chr2:212492891-212492892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10540728	chr2:212492947-212492948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs398061017	chr2:212492951-212492952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188132152	chr2:212493000-212493001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370142171	chr2:212493039-212493040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533153485	chr2:212493055-212493056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569982833	chr2:212493056-212493057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535758208	chr2:212493068-212493069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549261502	chr2:212493126-212493127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566257385	chr2:212493139-212493140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs180674969	chr2:212493140-212493141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187201774	chr2:212493183-212493184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs578162656	chr2:212493186-212493187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537412951	chr2:212493215-212493216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557407699	chr2:212493260-212493261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192145884	chr2:212493262-212493263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542905621	chr2:212493297-212493298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559429377	chr2:212493326-212493327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181807000	chr2:212493344-212493345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544903491	chr2:212493357-212493358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564612526	chr2:212493358-212493359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186002259	chr2:212493374-212493375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569590248	chr2:212493388-212493389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190377809	chr2:212493405-212493406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536917308	chr2:212493427-212493428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs367833976	chr2:212493446-212493447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529699732	chr2:212493483-212493484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549640147	chr2:212493487-212493488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566276053	chr2:212493497-212493498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182671644	chr2:212493524-212493525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551703388	chr2:212493528-212493529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567456879	chr2:212493596-212493597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571734730	chr2:212493600-212493601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537551975	chr2:212493602-212493603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557345183	chr2:212493612-212493613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574074986	chr2:212493627-212493628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368621835	chr2:212493666-212493667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186996197	chr2:212493675-212493676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189885047	chr2:212493698-212493699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573077813	chr2:212493746-212493747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182672648	chr2:212493747-212493748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188872725	chr2:212493757-212493758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7605188	chr2:212493758-212493759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs193234658	chr2:212493769-212493770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560687484	chr2:212493811-212493812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529674172	chr2:212493818-212493819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546305244	chr2:212493827-212493828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	17661082	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	18990708	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212467400-212546800	Weak transcription	Aorta	Aorta
2	chr2:212488400-212502800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:212492000-212492800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:212495200-212497200	Enhancers	Dnd41	blood
5	chr2:212497200-212497600	Weak transcription	Dnd41	blood
6	chr2:212497600-212498000	Enhancers	Dnd41	blood
7	chr2:212502600-212503400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:212502800-212503600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:212505600-212505800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:212505600-212506400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:212505800-212508000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:212506400-212507000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:212507000-212507200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:212508000-212508600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:212508600-212512600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:212512600-212512800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:212513600-212514800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:212513800-212514800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:212514000-212514200	Enhancers	Brain Hippocampus Middle	brain
20	chr2:212514000-212514800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:212514000-212514800	Enhancers	Brain Substantia Nigra	brain
22	chr2:212514200-212514600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:212514600-212527600	Weak transcription	Brain Hippocampus Middle	brain
24	chr2:212514800-212520800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:212514800-212528800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:212517200-212517600	Enhancers	Hela-S3	cervix
27	chr2:212518000-212518400	Active TSS	HSMM	muscle
28	chr2:212518800-212519400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr2:212518800-212519600	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr2:212519000-212519400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr2:212520200-212527800	Weak transcription	Brain Anterior Caudate	brain
32	chr2:212520800-212522800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:212521200-212540400	Weak transcription	Fetal Heart	heart
34	chr2:212521400-212522600	Weak transcription	Pancreas	Pancrea
35	chr2:212521400-212540800	Weak transcription	Fetal Kidney	kidney
36	chr2:212522400-212522800	Enhancers	HUVEC	blood vessel
37	chr2:212522600-212522800	Genic enhancers	Pancreas	Pancrea
38	chr2:212522800-212527200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:212522800-212537800	Weak transcription	Pancreas	Pancrea
40	chr2:212527200-212528800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:212527600-212527800	Enhancers	Brain Hippocampus Middle	brain
42	chr2:212527800-212528000	Enhancers	Brain Anterior Caudate	brain
43	chr2:212527800-212529600	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr2:212528000-212529200	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr2:212528400-212529200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr2:212528400-212529400	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr2:212528600-212528800	Enhancers	Brain Cingulate Gyrus	brain
48	chr2:212528600-212529200	Enhancers	H1 Cell Line	embryonic stem cell
49	chr2:212528600-212529200	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr2:212528600-212529600	Enhancers	HUES48 Cell Line	embryonic stem cell

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